Tophaceous gout of the nose in a male FMR1 premutation carrier
Abstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare gouty tophus in the nasal region.
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6586 |
| _version_ | 1811179251412500480 |
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| author | Si Jie Tang Shanthi Giri Nima Pahlavan Sophia H. Han Ellery R. Santos Glenda Espinal Ramkumar Aishworiya Andrea Schneider David Hessl Susan M. Rivera Randi J. Hagerman |
| author_facet | Si Jie Tang Shanthi Giri Nima Pahlavan Sophia H. Han Ellery R. Santos Glenda Espinal Ramkumar Aishworiya Andrea Schneider David Hessl Susan M. Rivera Randi J. Hagerman |
| author_sort | Si Jie Tang |
| collection | DOAJ |
| description | Abstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare gouty tophus in the nasal region. |
| first_indexed | 2024-04-11T06:31:45Z |
| format | Article |
| id | doaj.art-68a848a9a65b480895be8b29eb1a4633 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-11T06:31:45Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-68a848a9a65b480895be8b29eb1a46332022-12-22T04:40:01ZengWileyClinical Case Reports2050-09042022-11-011011n/an/a10.1002/ccr3.6586Tophaceous gout of the nose in a male FMR1 premutation carrierSi Jie Tang0Shanthi Giri1Nima Pahlavan2Sophia H. Han3Ellery R. Santos4Glenda Espinal5Ramkumar Aishworiya6Andrea Schneider7David Hessl8Susan M. Rivera9Randi J. Hagerman10Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USAKaiser Permanente Sacramento California USAKaiser Permanente North Valley Roseville California USAMira Loma High School Sacramento California USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USAAbstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare gouty tophus in the nasal region.https://doi.org/10.1002/ccr3.6586FMR1FXTASgoutpremutationtophi |
| spellingShingle | Si Jie Tang Shanthi Giri Nima Pahlavan Sophia H. Han Ellery R. Santos Glenda Espinal Ramkumar Aishworiya Andrea Schneider David Hessl Susan M. Rivera Randi J. Hagerman Tophaceous gout of the nose in a male FMR1 premutation carrier Clinical Case Reports FMR1 FXTAS gout premutation tophi |
| title | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_full | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_fullStr | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_full_unstemmed | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_short | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_sort | tophaceous gout of the nose in a male fmr1 premutation carrier |
| topic | FMR1 FXTAS gout premutation tophi |
| url | https://doi.org/10.1002/ccr3.6586 |
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